期刊文献+

先天性肛门直肠畸形Hoxd 13基因表达的研究(英文) 被引量:8

Expression of Hoxd 13 Gene in Children with Congenital Anorectal Malformation
下载PDF
导出
摘要 目的 检测Hoxd 13基因在肛门直肠畸形病人和正常人的直肠末端表达状况 ,探讨Hoxd 13基因与人类先天性肛门直肠畸形发生的关系。方法 应用RT -PCR方法检测Hoxd 13基因在 16例肛门直肠畸形患儿和 5例正常儿童直肠末端的表达水平。结果 Hoxd 13基因mRNA在先天性无肛畸形直肠末端表达水平明显低于正常直肠末端的表达 (0 .32± 0 .36vs 0 .73± 0 .10 )。 (P <0 .0 1)。结论 Hoxd Objective To study the Hoxd 13 gene expression in the children with anorectal malformation (CAM) and normal children, and to explore the relationship between Hoxd 13 gene and CAM. Methods Hoxd 13 gene mRNA expression was detected by RT-PCR in the rectal pouch in both 16 cases of anorectal malformations and 5 normal children. Results The expression level of Hoxd 13 gene mRNA was significantly higher in normal children than that in children with CAM ( 0.32 ± 0.26 vs 0.73 ± 0.10 ), (P< 0.01 ). Conclusions Hoxd 13 gene expression may be involved in the pathogenesis of anorectal malformation.
出处 《中国当代儿科杂志》 CAS CSCD 2003年第3期201-204,共4页 Chinese Journal of Contemporary Pediatrics
关键词 先天性肛门直肠畸形 Hoxd 13基因 基因表达 检测 逆转录多聚酶链反应 Anorectal malformation Hoxd 13 gene RT-PCR Gene expression
  • 相关文献

参考文献11

  • 1[1]Cuschieri A. Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe [J]. Am J Med Genet, 2001, 103(3): 207-215.
  • 2[2]Stoll C, Alembik Y, Roth MP, et al. Risk factors in congenital anal atresias [J]. Ann Genet, 1997, 40(4): 197-204.
  • 3[3]Hori T, Giuffra E, Andersson L, et al. Mapping loci causing sus ceptibility to anal atresia in pigs, using a resource pedigree [J]. J Pediatr Surg, 2001, 36(9): 1370- 1374.
  • 4[4]Lerone M, Bolino A, Martucciello G. The genetics of anorectalmalformations: a complex matter [J ]. Semin Pediatr Surg,1997, 6(4): 170- 179.
  • 5[5]Papapetrou C, Drummond F, Reardon W, et al. A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia [J ]. J Med Genet, 1999, 36(3): 208-213.
  • 6[6]Seri M, Martucciello G, Paleari L, et al. Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorecal malformations with sacral hypodevelopment [J]. Hum Genet, 1999, 104(1): 108- 110.
  • 7[7]Mark M, Rijli FM, Chambon P. Honeobox genes in embryogenesisand pathogenesis [J]. Pediatr Res, 1997, 42(4): 421-429.
  • 8[8]Roberts DJ, Johnson RL, Burke AC, et al. Sonic hedgehog is an endodermal signal inducing Bmp- 4 and Hox genes during indue tion and regionalization of the chick hindgut [J ]. Development, 1995, 121(10): 3163 - 3174.
  • 9[9]Roberts DJ, Smith DM, Goff DJ, et al. Epithelial - mesenchy mal signaling during the regionalization of the chick gut [J]. De velopment, 1998, 125(15): 2791 - 2801.
  • 10[10]Kondo T, Dolle P, Zakany J, et al. Function of posterior Hox Dgenes in the morphogenesis of the anal sphincter [J]. Development, 1996, 122(9): 2651-2659.

同被引文献28

  • 1邢茂青,王俊文,张金哲.先天性肛门直肠畸形Hoxc-8基因表达的研究及其意义[J].中华小儿外科杂志,2004,25(3):258-260. 被引量:4
  • 2侯文英,李龙,刘树立,张军,马立霜,王莹,刘钢,雷宇,贾钧,刘宝富,王淑芹.腹腔镜辅助中位肛门闭锁成形术11例报告[J].中国微创外科杂志,2007,7(5):439-441. 被引量:13
  • 3Mark M. Rijili FM. Chambon P. Homeobox genes in embryogenesis and pathogenesis. Pediatr Res. 1997. 42 (2): 421-429.
  • 4Yokoushi Y. SakiyamaJ. Kuroiwa A. Coordinate expression of Abd-Bsubfamilygene of the HoxA cluster in the developing digestive tract of chick embryo. Dev Bioi. 1995. 169(1): 76- 89.
  • 5Warot X. Fromental-Ramain C. Fraulob V. et a1. Genedosage?dependent effects of the HoxA-13 and Hoxd-13 mutation on morphogenesis of the ter-minal parts of the digestive and urogenital tracts. Develornent , 1997.124(23): 4781-4791.
  • 6Mortlock DP. InnisJW. Mutation of HoxA-13 in hand-foot?genital syndrome. Nature Genet. 1997. 15(2): 179-180.
  • 7Willingham E. Baskin LS. Candidate genes and their response to environmental agents in the etiology of hypospadias. Nat Clin Pract Urol.2007 .4(5) :270-279.
  • 8Dolle P. Dierich A. LeMeur M. et a1. Discruption of the HoxD-13 gene induces heterochrony leading to mice with neotenic limbs. Cell. 1993. 75 (3): 431-433.
  • 9赵秀丽,孟金平,孙森.中国人并多指(趾)畸形家系中HoxD13基因突变及产前诊断.中国医学遗传学杂志,2005,22(1):5-9.
  • 10王琳,郑国光.Eph-ephrin介导反向信号传递的研究进展[J].生物化学与生物物理进展,2007,34(11):1142-1146. 被引量:4

引证文献8

二级引证文献8

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部